DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Diabetes Mellitus, Non-Insulin-Dependent ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs199474657	TRNL1 ; ND1 ; ND2	0.752	0.360	MT	3243	non coding transcript exon variant	A/G	snv			15
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs193922402	ABCC8	0.807	0.160	11	17395611	stop gained	G/A	snv	1.3E-05	7.0E-06	6
rs72559722	ABCC8	0.807	0.160	11	17412716	stop gained	G/A	snv	6.1E-05	2.1E-05	6
rs72559734	ABCC8	0.807	0.160	11	17474955	missense variant	C/A;T	snv	4.0E-06; 8.0E-06		6
rs137853236	HNF1A	0.807	0.280	12	120997504	missense variant	C/T	snv	1.2E-05		6
rs1555212014	HNF1A	0.807	0.280	12	120994264	missense variant	C/T	snv			6
rs754729248	HNF1A	0.807	0.280	12	120996568	missense variant	C/A;G;T	snv	2.4E-05; 1.9E-04; 3.6E-05		6
rs1339616347	WRN	0.925	0.120	8	31068328	splice donor variant	G/T	snv			6
rs1554948310	ABCC8	0.827	0.160	11	17474884	splice donor variant	A/G	snv			5
rs72559715	ABCC8	0.827	0.160	11	17394379	missense variant	C/T	snv		7.0E-06	5
rs267607196	KCNJ11	0.827	0.160	11	17387248	missense variant	C/T	snv	2.4E-05	2.8E-05	5
rs148311934	LOC105375258 ; GCK	0.827	0.080	7	44149763	missense variant	C/T	snv	8.0E-06	1.4E-05	5
rs587780345	LOC105375258 ; GCK	0.851	0.080	7	44150004	missense variant	C/T	snv			5
rs587777732	MIR3646 ; HNF4A	0.763	0.240	20	44406195	missense variant	C/T	snv			5
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	4
rs193922283	GCK	0.851	0.080	7	44145176	missense variant	G/A	snv			4
rs769268803	GCK ; LOC105375258	0.851	0.080	7	44147747	missense variant	C/G;T	snv	4.0E-06		4
rs1360415315	LOC105375258 ; GCK	0.851	0.080	7	44149772	missense variant	C/G;T	snv	4.0E-06		4
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			4
rs63750900	PSEN1	0.763	0.160	14	73198067	missense variant	G/A	snv	4.0E-06	7.0E-06	4
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		4
rs137852673	ABCC8	0.851	0.120	11	17395915	missense variant	G/A;T	snv	5.0E-06; 2.0E-05		3
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	3